Synonyms	Pterin-4-Alpha-Carbinolamine Dehydratase;PHS;4-Alpha-Hydroxy-Tetrahydropterin Dehydratase;Dimerization Cofactor of Hepatocyte Nuclear Factor 1-Alpha;DCoH;Dimerization Cofactor of HNF1;Phenylalanine Hydroxylase-Stimulating Protein;Pterin Carbinolamine Dehydratase;PCD;PCBD1;DCOH;PCBD
Species	Human
Expression_host	E.coli
Sequence	Ala2-Thr104
Accession	P61457
Mol_Mass	14.2 kDa
AP_Mol_Mass	14 kDa
Tag	N-His

Properties

Purity	> 95 % as determined by reducing SDS-PAGE.
Endotoxin level	< 1.0 EU per μg of the protein as determined by the LAL method.
Storage	Store at < -20°C, stable for 6 months. Please minimize freeze-thaw cycles.
Shipping	This product is provided as liquid. It is shipped at frozen temperature with blue ice/gel packs. Upon receipt, store it immediately at < - 20°C.
Formulation	Supplied as a 0.2 μm filtered solution of 20mM Tris-HCl, 150mM NaCl, 1mM DTT, pH 8.0.
Reconstitution	Not Applicable

Background

Pterin-4-α-Carbinolamine Dehydratase (PCBD1) is the founding member of the Pterin-4-α-Carbinolamine Dehydratase Family. PCBD1 is involved in Tetrahydrobiopterin biosynthesis. It seems to prevent the formation of 7-Pterins and accelerate the formation of Quinonoid-BH2. Furthermore, PCBD1 regulates the homodimerization of the transcription factor Hepatocyte Nuclear Factor 1 (HNF1) and enhances its transcriptional activity. Defects in PCBD1 are the cause of BH4-Deficient Hyperphenylalaninemia Type D (HPABH4D). HPABH4D is characterized by the excretion of 7-substituted Pterins in the urine of affected patients.

Citations

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